ClinVar for Gene (Select 3976) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290639	NM_002309.5(LIF):c.451G>T (p.Val151Leu)	LIF (V151L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3118692	NM_002309.5(LIF):c.8T>A (p.Val3Asp)	LIF, LIF-AS2 (V3D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118691	NM_002309.5(LIF):c.409C>T (p.Leu137Phe)	LIF (L137F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118690	NM_002309.5(LIF):c.298G>C (p.Ala100Pro)	LIF (G40A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118689	NM_002309.5(LIF):c.260C>T (p.Thr87Met)	LIF (T87M)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3118688	NM_002309.5(LIF):c.109C>T (p.Arg37Cys)	LIF (R37C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598359	NM_002309.5(LIF):c.73C>T (p.Leu25Phe)	LIF (L25F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493365	NM_002309.5(LIF):c.85C>T (p.Pro29Ser)	LIF (P29S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392770	NM_002309.5(LIF):c.475T>C (p.Tyr159His)	LIF (Y159H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2331722	NM_002309.5(LIF):c.596C>T (p.Ala199Val)	LIF (A199V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329062	NM_002309.5(LIF):c.226A>G (p.Asn76Asp)	LIF (N76D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294575	NM_002309.5(LIF):c.421G>A (p.Ala141Thr)	LIF (A141T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 403032	NM_002309.5(LIF):c.256G>A (p.Val86Met)	LIF (V86M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 34